Test Catalog

Test ID: CSP53    
TP53 Gene Somatic Mutation Pre-Analysis Cell Sorting, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Determination of B-cell content and confirmation the presence of a clonal B-cell population evaluating chronic lymphocytic leukemia patients prior to TP53 variant analysis

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Patients with chronic lymphocytic leukemia (CLL) have variable disease course influenced by a series of tumor biologic factors. The presence of chromosomal 17p- or TP53 gene variation confers a very poor prognosis to a subset of CLL patients, both at time of initial diagnosis as well as at disease progression, or in the setting of therapeutic resistance. TP53 gene variant status in CLL has emerged as the single most predictive tumor genetic abnormality associated with adverse outcome and poor response to standard immunochemotherapy; however, patients can be managed with alternative therapeutic options.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

Only orderable as a reflex. For more information see P53CA / Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies.

Interpretation Provides information to assist in interpretation of the test results

Correlation with clinical, histopathologic and additional laboratory findings is required for final interpretation of these results. The final interpretation of results for clinical management of the patient is the responsibility of the managing physician.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

No significant cautionary statements

Clinical Reference Recommendations for in-depth reading of a clinical nature

1. Zenz T, Krober A, Scherer K, et al: Monoallelic TP53 inactivation is associated with poor prognosis in chronic lymphocytic leukemia: results from a detailed genetic characterization with long-term follow-up. Blood 2008;112:3322-3329

2. Lehmann S, Oqawa S, Raynaud SD, et al: Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. Cancer 2008;112:1296-1305

3. Rossi D, Cerri M, Deambrogi C, et al: The prognostic value of TP53 mutations in chronic lymphocytic leukemia is independent of Del17p13: implications for overall survival and chemorefractoriness. Clin Cancer Res 2009;15(3):995-1004

4. Zent CS, Call TG, Hogan WJ, et al: Update on risk-stratified management for chronic lymphocytic leukemia. Leuk Lymphoma 2006;47(9):1738-1746

5. The TP53 web site. Accessed 12/2019. Available at http://p53.fr

6. Trbusek M, Smardova J, Malcikova J, et al: Missense mutations located in structural p53 DNA-binding motifs are associated with extremely poor survival in chronic lymphocytic leukemia. J Clin Oncol 2011;29:2703-2708

7. Halldorsdottir AM, Lundin A, Murray F, et al: Impact of TP53 mutation and 17p deletion in mantle cell lymphoma. Leukemia 2011;25:1904-1908

8. Young KH, Leroy K, Moller MB, et al: Structural profiles of TP53 gene mutations predict clinical outcome in diffuse large B-cell lymphoma: an international collaborative study. Blood 2008;112:3088-3098